Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hepatorenal disorders (gene panel) BCS1L, CC2D2A, DCDC2, EHHADH, HNF1B, INVS, MKS1, NPHP1, NPHP3, NPHP4, PKHD1, POLG, TMEM216 Hepatorenal disorders (13 genes) - UCL GRACILE syndrome, Mitochondrial DNA-associated Leigh syndrome, Isolated complex III deficiency, Joubert syndrome, Meckel syndrome, Isolated neonatal sclerosing cholangitis, Primary Fanconi renotubular syndrome, HNF1B-related autosomal dominant tubulointerstitial kidney disease, Infantile nephronophthisis, Bardet-Biedl syndrome, Senior-Loken syndrome, Autosomal recessive polycystic kidney disease Centre de Génétique Médicale UCL
Hallervorden-Spatz disease (Neurodegeneration with brain iron accumulation type 1) / HARP syndrome (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis pigmentosa, and Pallidal degeneration) PANK2 Classic pantothenate kinase-associated neurodegeneration, Atypical pantothenate kinase-associated neurodegeneration Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Occipital horn syndrome / Distal Spinal Muscular atrophy ATP7A Occipital horn syndrome, X-linked distal spinal muscular atrophy type 3 Centrum Medische Genetica - UZ Gent
CYP2C19*2,*3,*17 genotyping - drug metabolism - Pharmacogenetics CYP2C19 Antidepressant or antipsychotic toxicity or dose selection, Resistance to clopidogrel, Voriconazole toxicity Centre de Génétique Médicale UCL
CYP2D6 genotyping (full gene sequencing + pseudogene and CNV analysis)- drug metabolism - Pharmacogenetics CYP2D6 Codeine toxicity, Resistance to tamoxifene, Antidepressant or antipsychotic toxicity or dose selection Centre de Génétique Médicale UCL